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510 Possible Causes for All Reported Mutations Have Occurred De Novo, Hypoplasia of the Ocular Nerve

  • Optic Atrophy

    […] involvement Fatty acid hydroxylase-associated neurodegeneration Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome Foveal hypoplasia-presenile[se-atlas.de] Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov] […] syndrome Familial benign flecked retina Familial drusen Familial flecked retinopathy Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular[se-atlas.de]

  • Helsmoortel-van der Aa Syndrome

    Other features include corneal changes, glaucoma, cataract, lens subluxation, strabismus, optic nerve coloboma and hypoplasia.[eyewiki.aao.org] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] Other causes of nystagmus and poor vision in infancy (e.g. retinal dystrophy, congenital cataracts, optic nerve hypoplasia) lack the iris changes seen in aniridia.[eyewiki.aao.org]

  • Anophthalmia - Microphthalmia Syndrome

    Computed tomography of the eyes and orbits was read as absence of eyeballs and presence of cystic remnants, threadlike optic nerve, hypoplasia of extrinsic ocular muscles[medwave.cl] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org] Phenotype 2 Distinguishing Clinical Features Selected OMIM SOX2 SOX2 -related eye disorders 15%-20% AD Optic nerve hypoplasia FTT, genital abnormalities, pituitary dysfunction[ncbi.nlm.nih.gov]

  • Peripheral Neuropathy

    […] of the fovea and optic nerve.[nature.com] hypoplasia was variable in family no. 4.[nature.com] However, all ocular findings were almost completely symmetrical in both eyes of each patient.[nature.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Isolated optic nerve hypoplasia

    Clinical Characteristics Ocular Features: The hallmark of this syndrome is bilateral optic nerve dysplasia including aplasia and hypoplasia.[disorders.eyes.arizona.edu] hypoplasia. ( 26799143 ) Pang Y....Frantz K.A. 2016 24 Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia. ( 27014380 ) Karahan E....Tulin[malacards.org] Systemic and ocular findings in 100 patients with optic nerve hypoplasia.[benthamopen.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Haddad Syndrome

    Optic nerve hypoplasia in children and adolescents; prevalence, ocular characteristics and behavioural problems. Acta Ophthalmologica. 2014;92:563-570. 9.[eyewiki.aao.org] Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr. 2006;148:85–88 8.[eyewiki.aao.org] Incidence and Associated Endocrine and Neurologic Abnormalities of Optic Nerve Hypoplasia. JAMA Ophthalmology. 2013;131:898-902 10.[eyewiki.aao.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Congenital Deafness

    Okihiro syndrome Classic features include Duane's syndrome (resembles a 6th nerve palsy ), congenital optic nerve hypoplasia, bilateral deafness, and "radial ray" malformation[dizziness-and-balance.com] It is related to other SALL4 disorders including acro-renal-ocular syndrome and Holt-Oram syndome.[dizziness-and-balance.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Sick Sinus Syndrome

    […] albinism, type I Oculopharyngeal muscular dystrophy Optic nerve hypoplasia, bilateral Ornithine carbamoyltransferase deficiency Osler hemorrhagic telangiectasia syndrome[pentacorelab.hu] 1 Nonaka myopathy Non-ketotic hyperglycinemia Noonan syndrome 1 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 NYSTAGMUS 6, CONGENITAL, X-LINKED Ocular[pentacorelab.hu]

    Missing: All Reported Mutations Have Occurred De Novo
  • Dilated Cardiomyopathy 1R

    […] albinism, type I Oculopharyngeal muscular dystrophy Optic nerve hypoplasia, bilateral Ornithine carbamoyltransferase deficiency Osler hemorrhagic telangiectasia syndrome[pentacorelab.hu] 1 Nonaka myopathy Non-ketotic hyperglycinemia Noonan syndrome 1 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 NYSTAGMUS 6, CONGENITAL, X-LINKED Ocular[pentacorelab.hu]

    Missing: All Reported Mutations Have Occurred De Novo
  • Dilated Cardiomyopathy Type 2B

    […] albinism, type I Oculopharyngeal muscular dystrophy Optic nerve hypoplasia, bilateral Ornithine carbamoyltransferase deficiency Osler hemorrhagic telangiectasia syndrome[pentacorelab.hu] 1 Nonaka myopathy Non-ketotic hyperglycinemia Noonan syndrome 1 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 NYSTAGMUS 6, CONGENITAL, X-LINKED Ocular[pentacorelab.hu]

    Missing: All Reported Mutations Have Occurred De Novo

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